SNP Links for Protein (Select 530416269) - SNP

Links from Protein

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Select item 14901380661.

rs1490138066 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:43847495 (GRCh38)
19:44351647 (GRCh37)
Canonical SPDI:: NC_000019.10:43847494:G:T
Gene:: ZNF283 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.43847495G>T, NC_000019.9:g.44351647G>T, XM_005258784.4:c.819G>T, XM_005258784.3:c.819G>T, XM_005258784.2:c.819G>T, XM_005258784.1:c.819G>T, XM_005258786.4:c.819G>T, XM_005258786.3:c.819G>T, XM_005258786.2:c.819G>T, XM_005258786.1:c.819G>T, XM_005258785.4:c.819G>T, XM_005258785.3:c.819G>T, XM_005258785.2:c.819G>T, XM_005258785.1:c.819G>T, XM_017026636.3:c.576G>T, XM_017026636.2:c.576G>T, XM_017026636.1:c.576G>T, XM_017026633.2:c.819G>T, XM_017026633.1:c.819G>T, NM_181845.2:c.894G>T, NM_181845.1:c.894G>T, XM_017026634.2:c.819G>T, XM_017026634.1:c.819G>T, XM_017026635.2:c.693G>T, XM_017026635.1:c.693G>T, NM_001297752.2:c.477G>T, NM_001297752.1:c.477G>T, XM_024451460.2:c.819G>T, XM_024451460.1:c.819G>T, XM_047438638.1:c.819G>T, XM_047438639.1:c.819G>T, XP_005258841.1:p.Lys273Asn, XP_005258843.1:p.Lys273Asn, XP_005258842.1:p.Lys273Asn, XP_016882125.1:p.Lys192Asn, XP_016882122.1:p.Lys273Asn, NP_862828.1:p.Lys298Asn, XP_016882123.1:p.Lys273Asn, XP_016882124.1:p.Lys231Asn, NP_001284681.1:p.Lys159Asn, XP_024307228.1:p.Lys273Asn, XP_047294594.1:p.Lys273Asn, XP_047294595.1:p.Lys273Asn

Select item 14895361852.

rs1489536185 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:43848233 (GRCh38)
19:44352386 (GRCh37)
Canonical SPDI:: NC_000019.10:43848233:T:TT
Gene:: ZNF283 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.43848234dup, NC_000019.9:g.44352386dup, XM_005258784.4:c.1558dup, XM_005258784.3:c.1558dup, XM_005258784.2:c.1558dup, XM_005258784.1:c.1558dup, XM_005258786.4:c.1558dup, XM_005258786.3:c.1558dup, XM_005258786.2:c.1558dup, XM_005258786.1:c.1558dup, XM_005258785.4:c.1558dup, XM_005258785.3:c.1558dup, XM_005258785.2:c.1558dup, XM_005258785.1:c.1558dup, XM_017026636.3:c.1315dup, XM_017026636.2:c.1315dup, XM_017026636.1:c.1315dup, XM_017026633.2:c.1558dup, XM_017026633.1:c.1558dup, NM_181845.2:c.1633dup, NM_181845.1:c.1633dup, XM_017026634.2:c.1558dup, XM_017026634.1:c.1558dup, XM_017026635.2:c.1432dup, XM_017026635.1:c.1432dup, NM_001297752.2:c.1216dup, NM_001297752.1:c.1216dup, XM_024451460.2:c.1558dup, XM_024451460.1:c.1558dup, XM_047438638.1:c.1558dup, XM_047438639.1:c.1558dup, XP_005258841.1:p.Cys520fs, XP_005258843.1:p.Cys520fs, XP_005258842.1:p.Cys520fs, XP_016882125.1:p.Cys439fs, XP_016882122.1:p.Cys520fs, NP_862828.1:p.Cys545fs, XP_016882123.1:p.Cys520fs, XP_016882124.1:p.Cys478fs, NP_001284681.1:p.Cys406fs, XP_024307228.1:p.Cys520fs, XP_047294594.1:p.Cys520fs, XP_047294595.1:p.Cys520fs

Select item 14820046723.

rs1482004672 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:43837148 (GRCh38)
19:44341300 (GRCh37)
Canonical SPDI:: NC_000019.10:43837147:G:A,NC_000019.10:43837147:G:C
Gene:: ZNF283 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.43837148G>A, NC_000019.10:g.43837148G>C, NC_000019.9:g.44341300G>A, NC_000019.9:g.44341300G>C, XM_005258784.4:c.231G>A, XM_005258784.4:c.231G>C, XM_005258784.3:c.231G>A, XM_005258784.3:c.231G>C, XM_005258784.2:c.231G>A, XM_005258784.2:c.231G>C, XM_005258784.1:c.231G>A, XM_005258784.1:c.231G>C, XM_005258786.4:c.231G>A, XM_005258786.4:c.231G>C, XM_005258786.3:c.231G>A, XM_005258786.3:c.231G>C, XM_005258786.2:c.231G>A, XM_005258786.2:c.231G>C, XM_005258786.1:c.231G>A, XM_005258786.1:c.231G>C, XM_005258785.4:c.231G>A, XM_005258785.4:c.231G>C, XM_005258785.3:c.231G>A, XM_005258785.3:c.231G>C, XM_005258785.2:c.231G>A, XM_005258785.2:c.231G>C, XM_005258785.1:c.231G>A, XM_005258785.1:c.231G>C, XM_017026633.2:c.231G>A, XM_017026633.2:c.231G>C, XM_017026633.1:c.231G>A, XM_017026633.1:c.231G>C, NM_181845.2:c.306G>A, NM_181845.2:c.306G>C, NM_181845.1:c.306G>A, NM_181845.1:c.306G>C, XM_017026634.2:c.231G>A, XM_017026634.2:c.231G>C, XM_017026634.1:c.231G>A, XM_017026634.1:c.231G>C, XM_017026635.2:c.105G>A, XM_017026635.2:c.105G>C, XM_017026635.1:c.105G>A, XM_017026635.1:c.105G>C, XM_024451460.2:c.231G>A, XM_024451460.2:c.231G>C, XM_024451460.1:c.231G>A, XM_024451460.1:c.231G>C, XM_047438638.1:c.231G>A, XM_047438638.1:c.231G>C, XM_047438639.1:c.231G>A, XM_047438639.1:c.231G>C, XP_005258841.1:p.Met77Ile, XP_005258841.1:p.Met77Ile, XP_005258843.1:p.Met77Ile, XP_005258843.1:p.Met77Ile, XP_005258842.1:p.Met77Ile, XP_005258842.1:p.Met77Ile, XP_016882122.1:p.Met77Ile, XP_016882122.1:p.Met77Ile, NP_862828.1:p.Met102Ile, NP_862828.1:p.Met102Ile, XP_016882123.1:p.Met77Ile, XP_016882123.1:p.Met77Ile, XP_016882124.1:p.Met35Ile, XP_016882124.1:p.Met35Ile, XP_024307228.1:p.Met77Ile, XP_024307228.1:p.Met77Ile, XP_047294594.1:p.Met77Ile, XP_047294594.1:p.Met77Ile, XP_047294595.1:p.Met77Ile, XP_047294595.1:p.Met77Ile

Select item 14815042914.

rs1481504291 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:43837147 (GRCh38)
19:44341299 (GRCh37)
Canonical SPDI:: NC_000019.10:43837146:T:C
Gene:: ZNF283 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.43837147T>C, NC_000019.9:g.44341299T>C, XM_005258784.4:c.230T>C, XM_005258784.3:c.230T>C, XM_005258784.2:c.230T>C, XM_005258784.1:c.230T>C, XM_005258786.4:c.230T>C, XM_005258786.3:c.230T>C, XM_005258786.2:c.230T>C, XM_005258786.1:c.230T>C, XM_005258785.4:c.230T>C, XM_005258785.3:c.230T>C, XM_005258785.2:c.230T>C, XM_005258785.1:c.230T>C, XM_017026633.2:c.230T>C, XM_017026633.1:c.230T>C, NM_181845.2:c.305T>C, NM_181845.1:c.305T>C, XM_017026634.2:c.230T>C, XM_017026634.1:c.230T>C, XM_017026635.2:c.104T>C, XM_017026635.1:c.104T>C, XM_024451460.2:c.230T>C, XM_024451460.1:c.230T>C, XM_047438638.1:c.230T>C, XM_047438639.1:c.230T>C, XP_005258841.1:p.Met77Thr, XP_005258843.1:p.Met77Thr, XP_005258842.1:p.Met77Thr, XP_016882122.1:p.Met77Thr, NP_862828.1:p.Met102Thr, XP_016882123.1:p.Met77Thr, XP_016882124.1:p.Met35Thr, XP_024307228.1:p.Met77Thr, XP_047294594.1:p.Met77Thr, XP_047294595.1:p.Met77Thr

Select item 14809306365.

rs1480930636 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:43847001 (GRCh38)
19:44351153 (GRCh37)
Canonical SPDI:: NC_000019.10:43847000:A:C
Gene:: ZNF283 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.43847001A>C, NC_000019.9:g.44351153A>C, XM_005258784.4:c.325A>C, XM_005258784.3:c.325A>C, XM_005258784.2:c.325A>C, XM_005258784.1:c.325A>C, XM_005258786.4:c.325A>C, XM_005258786.3:c.325A>C, XM_005258786.2:c.325A>C, XM_005258786.1:c.325A>C, XM_005258785.4:c.325A>C, XM_005258785.3:c.325A>C, XM_005258785.2:c.325A>C, XM_005258785.1:c.325A>C, XM_017026636.3:c.82A>C, XM_017026636.2:c.82A>C, XM_017026636.1:c.82A>C, XM_017026633.2:c.325A>C, XM_017026633.1:c.325A>C, NM_181845.2:c.400A>C, NM_181845.1:c.400A>C, XM_017026634.2:c.325A>C, XM_017026634.1:c.325A>C, XM_017026635.2:c.199A>C, XM_017026635.1:c.199A>C, NM_001297752.2:c.-18A>C, NM_001297752.1:c.-18A>C, XM_024451460.2:c.325A>C, XM_024451460.1:c.325A>C, XM_047438638.1:c.325A>C, XM_047438639.1:c.325A>C, XP_005258841.1:p.Asn109His, XP_005258843.1:p.Asn109His, XP_005258842.1:p.Asn109His, XP_016882125.1:p.Asn28His, XP_016882122.1:p.Asn109His, NP_862828.1:p.Asn134His, XP_016882123.1:p.Asn109His, XP_016882124.1:p.Asn67His, XP_024307228.1:p.Asn109His, XP_047294594.1:p.Asn109His, XP_047294595.1:p.Asn109His

Select item 14799515486.

rs1479951548 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:43847394 (GRCh38)
19:44351546 (GRCh37)
Canonical SPDI:: NC_000019.10:43847393:T:C,NC_000019.10:43847393:T:G
Gene:: ZNF283 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.43847394T>C, NC_000019.10:g.43847394T>G, NC_000019.9:g.44351546T>C, NC_000019.9:g.44351546T>G, XM_005258784.4:c.718T>C, XM_005258784.4:c.718T>G, XM_005258784.3:c.718T>C, XM_005258784.3:c.718T>G, XM_005258784.2:c.718T>C, XM_005258784.2:c.718T>G, XM_005258784.1:c.718T>C, XM_005258784.1:c.718T>G, XM_005258786.4:c.718T>C, XM_005258786.4:c.718T>G, XM_005258786.3:c.718T>C, XM_005258786.3:c.718T>G, XM_005258786.2:c.718T>C, XM_005258786.2:c.718T>G, XM_005258786.1:c.718T>C, XM_005258786.1:c.718T>G, XM_005258785.4:c.718T>C, XM_005258785.4:c.718T>G, XM_005258785.3:c.718T>C, XM_005258785.3:c.718T>G, XM_005258785.2:c.718T>C, XM_005258785.2:c.718T>G, XM_005258785.1:c.718T>C, XM_005258785.1:c.718T>G, XM_017026636.3:c.475T>C, XM_017026636.3:c.475T>G, XM_017026636.2:c.475T>C, XM_017026636.2:c.475T>G, XM_017026636.1:c.475T>C, XM_017026636.1:c.475T>G, XM_017026633.2:c.718T>C, XM_017026633.2:c.718T>G, XM_017026633.1:c.718T>C, XM_017026633.1:c.718T>G, NM_181845.2:c.793T>C, NM_181845.2:c.793T>G, NM_181845.1:c.793T>C, NM_181845.1:c.793T>G, XM_017026634.2:c.718T>C, XM_017026634.2:c.718T>G, XM_017026634.1:c.718T>C, XM_017026634.1:c.718T>G, XM_017026635.2:c.592T>C, XM_017026635.2:c.592T>G, XM_017026635.1:c.592T>C, XM_017026635.1:c.592T>G, NM_001297752.2:c.376T>C, NM_001297752.2:c.376T>G, NM_001297752.1:c.376T>C, NM_001297752.1:c.376T>G, XM_024451460.2:c.718T>C, XM_024451460.2:c.718T>G, XM_024451460.1:c.718T>C, XM_024451460.1:c.718T>G, XM_047438638.1:c.718T>C, XM_047438638.1:c.718T>G, XM_047438639.1:c.718T>C, XM_047438639.1:c.718T>G, XP_005258841.1:p.Cys240Arg, XP_005258841.1:p.Cys240Gly, XP_005258843.1:p.Cys240Arg, XP_005258843.1:p.Cys240Gly, XP_005258842.1:p.Cys240Arg, XP_005258842.1:p.Cys240Gly, XP_016882125.1:p.Cys159Arg, XP_016882125.1:p.Cys159Gly, XP_016882122.1:p.Cys240Arg, XP_016882122.1:p.Cys240Gly, NP_862828.1:p.Cys265Arg, NP_862828.1:p.Cys265Gly, XP_016882123.1:p.Cys240Arg, XP_016882123.1:p.Cys240Gly, XP_016882124.1:p.Cys198Arg, XP_016882124.1:p.Cys198Gly, NP_001284681.1:p.Cys126Arg, NP_001284681.1:p.Cys126Gly, XP_024307228.1:p.Cys240Arg, XP_024307228.1:p.Cys240Gly, XP_047294594.1:p.Cys240Arg, XP_047294594.1:p.Cys240Gly, XP_047294595.1:p.Cys240Arg, XP_047294595.1:p.Cys240Gly

Select item 14795738377.

rs1479573837 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:43847349 (GRCh38)
19:44351501 (GRCh37)
Canonical SPDI:: NC_000019.10:43847348:C:T
Gene:: ZNF283 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.43847349C>T, NC_000019.9:g.44351501C>T, XM_005258784.4:c.673C>T, XM_005258784.3:c.673C>T, XM_005258784.2:c.673C>T, XM_005258784.1:c.673C>T, XM_005258786.4:c.673C>T, XM_005258786.3:c.673C>T, XM_005258786.2:c.673C>T, XM_005258786.1:c.673C>T, XM_005258785.4:c.673C>T, XM_005258785.3:c.673C>T, XM_005258785.2:c.673C>T, XM_005258785.1:c.673C>T, XM_017026636.3:c.430C>T, XM_017026636.2:c.430C>T, XM_017026636.1:c.430C>T, XM_017026633.2:c.673C>T, XM_017026633.1:c.673C>T, NM_181845.2:c.748C>T, NM_181845.1:c.748C>T, XM_017026634.2:c.673C>T, XM_017026634.1:c.673C>T, XM_017026635.2:c.547C>T, XM_017026635.1:c.547C>T, NM_001297752.2:c.331C>T, NM_001297752.1:c.331C>T, XM_024451460.2:c.673C>T, XM_024451460.1:c.673C>T, XM_047438638.1:c.673C>T, XM_047438639.1:c.673C>T, XP_005258841.1:p.Leu225Phe, XP_005258843.1:p.Leu225Phe, XP_005258842.1:p.Leu225Phe, XP_016882125.1:p.Leu144Phe, XP_016882122.1:p.Leu225Phe, NP_862828.1:p.Leu250Phe, XP_016882123.1:p.Leu225Phe, XP_016882124.1:p.Leu183Phe, NP_001284681.1:p.Leu111Phe, XP_024307228.1:p.Leu225Phe, XP_047294594.1:p.Leu225Phe, XP_047294595.1:p.Leu225Phe

Select item 14766766738.

rs1476676673 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:43837102 (GRCh38)
19:44341254 (GRCh37)
Canonical SPDI:: NC_000019.10:43837101:G:A
Gene:: ZNF283 (Varview)
Functional Consequence:: stop_gained,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.43837102G>A, NC_000019.9:g.44341254G>A, XM_005258784.4:c.185G>A, XM_005258784.3:c.185G>A, XM_005258784.2:c.185G>A, XM_005258784.1:c.185G>A, XM_005258786.4:c.185G>A, XM_005258786.3:c.185G>A, XM_005258786.2:c.185G>A, XM_005258786.1:c.185G>A, XM_005258785.4:c.185G>A, XM_005258785.3:c.185G>A, XM_005258785.2:c.185G>A, XM_005258785.1:c.185G>A, XM_017026633.2:c.185G>A, XM_017026633.1:c.185G>A, NM_181845.2:c.260G>A, NM_181845.1:c.260G>A, XM_017026634.2:c.185G>A, XM_017026634.1:c.185G>A, XM_017026635.2:c.59G>A, XM_017026635.1:c.59G>A, XM_024451460.2:c.185G>A, XM_024451460.1:c.185G>A, XM_047438638.1:c.185G>A, XM_047438639.1:c.185G>A, XP_005258841.1:p.Trp62Ter, XP_005258843.1:p.Trp62Ter, XP_005258842.1:p.Trp62Ter, XP_016882122.1:p.Trp62Ter, NP_862828.1:p.Trp87Ter, XP_016882123.1:p.Trp62Ter, XP_016882124.1:p.Trp20Ter, XP_024307228.1:p.Trp62Ter, XP_047294594.1:p.Trp62Ter, XP_047294595.1:p.Trp62Ter

Select item 14747735499.

rs1474773549 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:43847816 (GRCh38)
19:44351968 (GRCh37)
Canonical SPDI:: NC_000019.10:43847815:C:T
Gene:: ZNF283 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.001714/28 (ALFA)
T=0.000103/13 (GnomAD)
T=0.000708/12 (TOMMO)
HGVS:: NC_000019.10:g.43847816C>T, NC_000019.9:g.44351968C>T, XM_005258784.4:c.1140C>T, XM_005258784.3:c.1140C>T, XM_005258784.2:c.1140C>T, XM_005258784.1:c.1140C>T, XM_005258786.4:c.1140C>T, XM_005258786.3:c.1140C>T, XM_005258786.2:c.1140C>T, XM_005258786.1:c.1140C>T, XM_005258785.4:c.1140C>T, XM_005258785.3:c.1140C>T, XM_005258785.2:c.1140C>T, XM_005258785.1:c.1140C>T, XM_017026636.3:c.897C>T, XM_017026636.2:c.897C>T, XM_017026636.1:c.897C>T, XM_017026633.2:c.1140C>T, XM_017026633.1:c.1140C>T, NM_181845.2:c.1215C>T, NM_181845.1:c.1215C>T, XM_017026634.2:c.1140C>T, XM_017026634.1:c.1140C>T, XM_017026635.2:c.1014C>T, XM_017026635.1:c.1014C>T, NM_001297752.2:c.798C>T, NM_001297752.1:c.798C>T, XM_024451460.2:c.1140C>T, XM_024451460.1:c.1140C>T, XM_047438638.1:c.1140C>T, XM_047438639.1:c.1140C>T

Select item 147396541110.

rs1473965411 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:43848032 (GRCh38)
19:44352184 (GRCh37)
Canonical SPDI:: NC_000019.10:43848031:T:A
Gene:: ZNF283 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.43848032T>A, NC_000019.9:g.44352184T>A, XM_005258784.4:c.1356T>A, XM_005258784.3:c.1356T>A, XM_005258784.2:c.1356T>A, XM_005258784.1:c.1356T>A, XM_005258786.4:c.1356T>A, XM_005258786.3:c.1356T>A, XM_005258786.2:c.1356T>A, XM_005258786.1:c.1356T>A, XM_005258785.4:c.1356T>A, XM_005258785.3:c.1356T>A, XM_005258785.2:c.1356T>A, XM_005258785.1:c.1356T>A, XM_017026636.3:c.1113T>A, XM_017026636.2:c.1113T>A, XM_017026636.1:c.1113T>A, XM_017026633.2:c.1356T>A, XM_017026633.1:c.1356T>A, NM_181845.2:c.1431T>A, NM_181845.1:c.1431T>A, XM_017026634.2:c.1356T>A, XM_017026634.1:c.1356T>A, XM_017026635.2:c.1230T>A, XM_017026635.1:c.1230T>A, NM_001297752.2:c.1014T>A, NM_001297752.1:c.1014T>A, XM_024451460.2:c.1356T>A, XM_024451460.1:c.1356T>A, XM_047438638.1:c.1356T>A, XM_047438639.1:c.1356T>A, XP_005258841.1:p.His452Gln, XP_005258843.1:p.His452Gln, XP_005258842.1:p.His452Gln, XP_016882125.1:p.His371Gln, XP_016882122.1:p.His452Gln, NP_862828.1:p.His477Gln, XP_016882123.1:p.His452Gln, XP_016882124.1:p.His410Gln, NP_001284681.1:p.His338Gln, XP_024307228.1:p.His452Gln, XP_047294594.1:p.His452Gln, XP_047294595.1:p.His452Gln

Select item 147262281211.

rs1472622812 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:43847858 (GRCh38)
19:44352010 (GRCh37)
Canonical SPDI:: NC_000019.10:43847857:T:C
Gene:: ZNF283 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.43847858T>C, NC_000019.9:g.44352010T>C, XM_005258784.4:c.1182T>C, XM_005258784.3:c.1182T>C, XM_005258784.2:c.1182T>C, XM_005258784.1:c.1182T>C, XM_005258786.4:c.1182T>C, XM_005258786.3:c.1182T>C, XM_005258786.2:c.1182T>C, XM_005258786.1:c.1182T>C, XM_005258785.4:c.1182T>C, XM_005258785.3:c.1182T>C, XM_005258785.2:c.1182T>C, XM_005258785.1:c.1182T>C, XM_017026636.3:c.939T>C, XM_017026636.2:c.939T>C, XM_017026636.1:c.939T>C, XM_017026633.2:c.1182T>C, XM_017026633.1:c.1182T>C, NM_181845.2:c.1257T>C, NM_181845.1:c.1257T>C, XM_017026634.2:c.1182T>C, XM_017026634.1:c.1182T>C, XM_017026635.2:c.1056T>C, XM_017026635.1:c.1056T>C, NM_001297752.2:c.840T>C, NM_001297752.1:c.840T>C, XM_024451460.2:c.1182T>C, XM_024451460.1:c.1182T>C, XM_047438638.1:c.1182T>C, XM_047438639.1:c.1182T>C

Select item 147239481812.

rs1472394818 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:43848023 (GRCh38)
19:44352175 (GRCh37)
Canonical SPDI:: NC_000019.10:43848022:T:A
Gene:: ZNF283 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00086/14 (ALFA)
A=0.0006/10 (TOMMO)
A=0.00445/13 (KOREAN)
HGVS:: NC_000019.10:g.43848023T>A, NC_000019.9:g.44352175T>A, XM_005258784.4:c.1347T>A, XM_005258784.3:c.1347T>A, XM_005258784.2:c.1347T>A, XM_005258784.1:c.1347T>A, XM_005258786.4:c.1347T>A, XM_005258786.3:c.1347T>A, XM_005258786.2:c.1347T>A, XM_005258786.1:c.1347T>A, XM_005258785.4:c.1347T>A, XM_005258785.3:c.1347T>A, XM_005258785.2:c.1347T>A, XM_005258785.1:c.1347T>A, XM_017026636.3:c.1104T>A, XM_017026636.2:c.1104T>A, XM_017026636.1:c.1104T>A, XM_017026633.2:c.1347T>A, XM_017026633.1:c.1347T>A, NM_181845.2:c.1422T>A, NM_181845.1:c.1422T>A, XM_017026634.2:c.1347T>A, XM_017026634.1:c.1347T>A, XM_017026635.2:c.1221T>A, XM_017026635.1:c.1221T>A, NM_001297752.2:c.1005T>A, NM_001297752.1:c.1005T>A, XM_024451460.2:c.1347T>A, XM_024451460.1:c.1347T>A, XM_047438638.1:c.1347T>A, XM_047438639.1:c.1347T>A

Select item 146998143213.

rs1469981432 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:43846939 (GRCh38)
19:44351091 (GRCh37)
Canonical SPDI:: NC_000019.10:43846938:A:T
Gene:: ZNF283 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.43846939A>T, NC_000019.9:g.44351091A>T, XM_005258784.4:c.263A>T, XM_005258784.3:c.263A>T, XM_005258784.2:c.263A>T, XM_005258784.1:c.263A>T, XM_005258786.4:c.263A>T, XM_005258786.3:c.263A>T, XM_005258786.2:c.263A>T, XM_005258786.1:c.263A>T, XM_005258785.4:c.263A>T, XM_005258785.3:c.263A>T, XM_005258785.2:c.263A>T, XM_005258785.1:c.263A>T, XM_017026636.3:c.20A>T, XM_017026636.2:c.20A>T, XM_017026636.1:c.20A>T, XM_017026633.2:c.263A>T, XM_017026633.1:c.263A>T, NM_181845.2:c.338A>T, NM_181845.1:c.338A>T, XM_017026634.2:c.263A>T, XM_017026634.1:c.263A>T, XM_017026635.2:c.137A>T, XM_017026635.1:c.137A>T, NM_001297752.2:c.-80A>T, NM_001297752.1:c.-80A>T, XM_024451460.2:c.263A>T, XM_024451460.1:c.263A>T, XM_047438638.1:c.263A>T, XM_047438639.1:c.263A>T, XP_005258841.1:p.Asp88Val, XP_005258843.1:p.Asp88Val, XP_005258842.1:p.Asp88Val, XP_016882125.1:p.Asn7Ile, XP_016882122.1:p.Asp88Val, NP_862828.1:p.Asp113Val, XP_016882123.1:p.Asp88Val, XP_016882124.1:p.Asp46Val, XP_024307228.1:p.Asp88Val, XP_047294594.1:p.Asp88Val, XP_047294595.1:p.Asp88Val

Select item 146949431814.

rs1469494318 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:43847427 (GRCh38)
19:44351579 (GRCh37)
Canonical SPDI:: NC_000019.10:43847426:T:C
Gene:: ZNF283 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.0002/1 (ALFA)
HGVS:: NC_000019.10:g.43847427T>C, NC_000019.9:g.44351579T>C, XM_005258784.4:c.751T>C, XM_005258784.3:c.751T>C, XM_005258784.2:c.751T>C, XM_005258784.1:c.751T>C, XM_005258786.4:c.751T>C, XM_005258786.3:c.751T>C, XM_005258786.2:c.751T>C, XM_005258786.1:c.751T>C, XM_005258785.4:c.751T>C, XM_005258785.3:c.751T>C, XM_005258785.2:c.751T>C, XM_005258785.1:c.751T>C, XM_017026636.3:c.508T>C, XM_017026636.2:c.508T>C, XM_017026636.1:c.508T>C, XM_017026633.2:c.751T>C, XM_017026633.1:c.751T>C, NM_181845.2:c.826T>C, NM_181845.1:c.826T>C, XM_017026634.2:c.751T>C, XM_017026634.1:c.751T>C, XM_017026635.2:c.625T>C, XM_017026635.1:c.625T>C, NM_001297752.2:c.409T>C, NM_001297752.1:c.409T>C, XM_024451460.2:c.751T>C, XM_024451460.1:c.751T>C, XM_047438638.1:c.751T>C, XM_047438639.1:c.751T>C, XP_005258841.1:p.Ser251Pro, XP_005258843.1:p.Ser251Pro, XP_005258842.1:p.Ser251Pro, XP_016882125.1:p.Ser170Pro, XP_016882122.1:p.Ser251Pro, NP_862828.1:p.Ser276Pro, XP_016882123.1:p.Ser251Pro, XP_016882124.1:p.Ser209Pro, NP_001284681.1:p.Ser137Pro, XP_024307228.1:p.Ser251Pro, XP_047294594.1:p.Ser251Pro, XP_047294595.1:p.Ser251Pro

Select item 146889127715.

rs1468891277 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGGACC>- [Show Flanks]
Chromosome:: 19:43837111 (GRCh38)
19:44341263 (GRCh37)
Canonical SPDI:: NC_000019.10:43837108:CCTGGACC:CC
Gene:: ZNF283 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,inframe_deletion,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.43837111_43837116del, NC_000019.9:g.44341263_44341268del, XM_005258784.4:c.194_199del, XM_005258784.3:c.194_199del, XM_005258784.2:c.194_199del, XM_005258784.1:c.194_199del, XM_005258786.4:c.194_199del, XM_005258786.3:c.194_199del, XM_005258786.2:c.194_199del, XM_005258786.1:c.194_199del, XM_005258785.4:c.194_199del, XM_005258785.3:c.194_199del, XM_005258785.2:c.194_199del, XM_005258785.1:c.194_199del, XM_017026633.2:c.194_199del, XM_017026633.1:c.194_199del, NM_181845.2:c.269_274del, NM_181845.1:c.269_274del, XM_017026634.2:c.194_199del, XM_017026634.1:c.194_199del, XM_017026635.2:c.68_73del, XM_017026635.1:c.68_73del, XM_024451460.2:c.194_199del, XM_024451460.1:c.194_199del, XM_047438638.1:c.194_199del, XM_047438639.1:c.194_199del, XP_005258841.1:p.Leu65_Asp66del, XP_005258843.1:p.Leu65_Asp66del, XP_005258842.1:p.Leu65_Asp66del, XP_016882122.1:p.Leu65_Asp66del, NP_862828.1:p.Leu90_Asp91del, XP_016882123.1:p.Leu65_Asp66del, XP_016882124.1:p.Leu23_Asp24del, XP_024307228.1:p.Leu65_Asp66del, XP_047294594.1:p.Leu65_Asp66del, XP_047294595.1:p.Leu65_Asp66del

Select item 146760357316.

rs1467603573 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 19:43847356 (GRCh38)
19:44351508 (GRCh37)
Canonical SPDI:: NC_000019.10:43847355:T:A,NC_000019.10:43847355:T:G
Gene:: ZNF283 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.43847356T>A, NC_000019.10:g.43847356T>G, NC_000019.9:g.44351508T>A, NC_000019.9:g.44351508T>G, XM_005258784.4:c.680T>A, XM_005258784.4:c.680T>G, XM_005258784.3:c.680T>A, XM_005258784.3:c.680T>G, XM_005258784.2:c.680T>A, XM_005258784.2:c.680T>G, XM_005258784.1:c.680T>A, XM_005258784.1:c.680T>G, XM_005258786.4:c.680T>A, XM_005258786.4:c.680T>G, XM_005258786.3:c.680T>A, XM_005258786.3:c.680T>G, XM_005258786.2:c.680T>A, XM_005258786.2:c.680T>G, XM_005258786.1:c.680T>A, XM_005258786.1:c.680T>G, XM_005258785.4:c.680T>A, XM_005258785.4:c.680T>G, XM_005258785.3:c.680T>A, XM_005258785.3:c.680T>G, XM_005258785.2:c.680T>A, XM_005258785.2:c.680T>G, XM_005258785.1:c.680T>A, XM_005258785.1:c.680T>G, XM_017026636.3:c.437T>A, XM_017026636.3:c.437T>G, XM_017026636.2:c.437T>A, XM_017026636.2:c.437T>G, XM_017026636.1:c.437T>A, XM_017026636.1:c.437T>G, XM_017026633.2:c.680T>A, XM_017026633.2:c.680T>G, XM_017026633.1:c.680T>A, XM_017026633.1:c.680T>G, NM_181845.2:c.755T>A, NM_181845.2:c.755T>G, NM_181845.1:c.755T>A, NM_181845.1:c.755T>G, XM_017026634.2:c.680T>A, XM_017026634.2:c.680T>G, XM_017026634.1:c.680T>A, XM_017026634.1:c.680T>G, XM_017026635.2:c.554T>A, XM_017026635.2:c.554T>G, XM_017026635.1:c.554T>A, XM_017026635.1:c.554T>G, NM_001297752.2:c.338T>A, NM_001297752.2:c.338T>G, NM_001297752.1:c.338T>A, NM_001297752.1:c.338T>G, XM_024451460.2:c.680T>A, XM_024451460.2:c.680T>G, XM_024451460.1:c.680T>A, XM_024451460.1:c.680T>G, XM_047438638.1:c.680T>A, XM_047438638.1:c.680T>G, XM_047438639.1:c.680T>A, XM_047438639.1:c.680T>G, XP_005258841.1:p.Val227Glu, XP_005258841.1:p.Val227Gly, XP_005258843.1:p.Val227Glu, XP_005258843.1:p.Val227Gly, XP_005258842.1:p.Val227Glu, XP_005258842.1:p.Val227Gly, XP_016882125.1:p.Val146Glu, XP_016882125.1:p.Val146Gly, XP_016882122.1:p.Val227Glu, XP_016882122.1:p.Val227Gly, NP_862828.1:p.Val252Glu, NP_862828.1:p.Val252Gly, XP_016882123.1:p.Val227Glu, XP_016882123.1:p.Val227Gly, XP_016882124.1:p.Val185Glu, XP_016882124.1:p.Val185Gly, NP_001284681.1:p.Val113Glu, NP_001284681.1:p.Val113Gly, XP_024307228.1:p.Val227Glu, XP_024307228.1:p.Val227Gly, XP_047294594.1:p.Val227Glu, XP_047294594.1:p.Val227Gly, XP_047294595.1:p.Val227Glu, XP_047294595.1:p.Val227Gly

Select item 146544037817.

rs1465440378 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:43847577 (GRCh38)
19:44351729 (GRCh37)
Canonical SPDI:: NC_000019.10:43847576:A:C,NC_000019.10:43847576:A:G
Gene:: ZNF283 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
G=0.000684/2 (KOREAN)
G=0.001092/2 (Korea1K)
HGVS:: NC_000019.10:g.43847577A>C, NC_000019.10:g.43847577A>G, NC_000019.9:g.44351729A>C, NC_000019.9:g.44351729A>G, XM_005258784.4:c.901A>C, XM_005258784.4:c.901A>G, XM_005258784.3:c.901A>C, XM_005258784.3:c.901A>G, XM_005258784.2:c.901A>C, XM_005258784.2:c.901A>G, XM_005258784.1:c.901A>C, XM_005258784.1:c.901A>G, XM_005258786.4:c.901A>C, XM_005258786.4:c.901A>G, XM_005258786.3:c.901A>C, XM_005258786.3:c.901A>G, XM_005258786.2:c.901A>C, XM_005258786.2:c.901A>G, XM_005258786.1:c.901A>C, XM_005258786.1:c.901A>G, XM_005258785.4:c.901A>C, XM_005258785.4:c.901A>G, XM_005258785.3:c.901A>C, XM_005258785.3:c.901A>G, XM_005258785.2:c.901A>C, XM_005258785.2:c.901A>G, XM_005258785.1:c.901A>C, XM_005258785.1:c.901A>G, XM_017026636.3:c.658A>C, XM_017026636.3:c.658A>G, XM_017026636.2:c.658A>C, XM_017026636.2:c.658A>G, XM_017026636.1:c.658A>C, XM_017026636.1:c.658A>G, XM_017026633.2:c.901A>C, XM_017026633.2:c.901A>G, XM_017026633.1:c.901A>C, XM_017026633.1:c.901A>G, NM_181845.2:c.976A>C, NM_181845.2:c.976A>G, NM_181845.1:c.976A>C, NM_181845.1:c.976A>G, XM_017026634.2:c.901A>C, XM_017026634.2:c.901A>G, XM_017026634.1:c.901A>C, XM_017026634.1:c.901A>G, XM_017026635.2:c.775A>C, XM_017026635.2:c.775A>G, XM_017026635.1:c.775A>C, XM_017026635.1:c.775A>G, NM_001297752.2:c.559A>C, NM_001297752.2:c.559A>G, NM_001297752.1:c.559A>C, NM_001297752.1:c.559A>G, XM_024451460.2:c.901A>C, XM_024451460.2:c.901A>G, XM_024451460.1:c.901A>C, XM_024451460.1:c.901A>G, XM_047438638.1:c.901A>C, XM_047438638.1:c.901A>G, XM_047438639.1:c.901A>C, XM_047438639.1:c.901A>G, XP_005258841.1:p.Lys301Gln, XP_005258841.1:p.Lys301Glu, XP_005258843.1:p.Lys301Gln, XP_005258843.1:p.Lys301Glu, XP_005258842.1:p.Lys301Gln, XP_005258842.1:p.Lys301Glu, XP_016882125.1:p.Lys220Gln, XP_016882125.1:p.Lys220Glu, XP_016882122.1:p.Lys301Gln, XP_016882122.1:p.Lys301Glu, NP_862828.1:p.Lys326Gln, NP_862828.1:p.Lys326Glu, XP_016882123.1:p.Lys301Gln, XP_016882123.1:p.Lys301Glu, XP_016882124.1:p.Lys259Gln, XP_016882124.1:p.Lys259Glu, NP_001284681.1:p.Lys187Gln, NP_001284681.1:p.Lys187Glu, XP_024307228.1:p.Lys301Gln, XP_024307228.1:p.Lys301Glu, XP_047294594.1:p.Lys301Gln, XP_047294594.1:p.Lys301Glu, XP_047294595.1:p.Lys301Gln, XP_047294595.1:p.Lys301Glu

Select item 146540329918.

rs1465403299 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:43848041 (GRCh38)
19:44352193 (GRCh37)
Canonical SPDI:: NC_000019.10:43848040:T:C
Gene:: ZNF283 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/2 (GnomAD)
C=0.000177/5 (TOMMO)
C=0.001369/4 (KOREAN)
HGVS:: NC_000019.10:g.43848041T>C, NC_000019.9:g.44352193T>C, XM_005258784.4:c.1365T>C, XM_005258784.3:c.1365T>C, XM_005258784.2:c.1365T>C, XM_005258784.1:c.1365T>C, XM_005258786.4:c.1365T>C, XM_005258786.3:c.1365T>C, XM_005258786.2:c.1365T>C, XM_005258786.1:c.1365T>C, XM_005258785.4:c.1365T>C, XM_005258785.3:c.1365T>C, XM_005258785.2:c.1365T>C, XM_005258785.1:c.1365T>C, XM_017026636.3:c.1122T>C, XM_017026636.2:c.1122T>C, XM_017026636.1:c.1122T>C, XM_017026633.2:c.1365T>C, XM_017026633.1:c.1365T>C, NM_181845.2:c.1440T>C, NM_181845.1:c.1440T>C, XM_017026634.2:c.1365T>C, XM_017026634.1:c.1365T>C, XM_017026635.2:c.1239T>C, XM_017026635.1:c.1239T>C, NM_001297752.2:c.1023T>C, NM_001297752.1:c.1023T>C, XM_024451460.2:c.1365T>C, XM_024451460.1:c.1365T>C, XM_047438638.1:c.1365T>C, XM_047438639.1:c.1365T>C

Select item 146538445419.

rs1465384454 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:43835547 (GRCh38)
19:44339699 (GRCh37)
Canonical SPDI:: NC_000019.10:43835546:C:T
Gene:: ZNF283 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.43835547C>T, NC_000019.9:g.44339699C>T, XM_005258784.4:c.90C>T, XM_005258784.3:c.90C>T, XM_005258784.2:c.90C>T, XM_005258784.1:c.90C>T, XM_005258786.4:c.90C>T, XM_005258786.3:c.90C>T, XM_005258786.2:c.90C>T, XM_005258786.1:c.90C>T, XM_005258785.4:c.90C>T, XM_005258785.3:c.90C>T, XM_005258785.2:c.90C>T, XM_005258785.1:c.90C>T, XM_017026633.2:c.90C>T, XM_017026633.1:c.90C>T, NM_181845.2:c.165C>T, NM_181845.1:c.165C>T, XM_017026634.2:c.90C>T, XM_017026634.1:c.90C>T, XM_017026635.2:c.-37C>T, XM_017026635.1:c.-37C>T, NM_001297752.2:c.-126C>T, NM_001297752.1:c.-126C>T, XM_024451460.2:c.90C>T, XM_024451460.1:c.90C>T, XM_047438638.1:c.90C>T, XM_047438639.1:c.90C>T

Select item 146536472620.

rs1465364726 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:43848314 (GRCh38)
19:44352466 (GRCh37)
Canonical SPDI:: NC_000019.10:43848313:C:T
Gene:: ZNF283 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00024/5 (ALFA)
T=0.00031/2 (1000Genomes)
T=0.00684/20 (KOREAN)
HGVS:: NC_000019.10:g.43848314C>T, NC_000019.9:g.44352466C>T, XM_005258784.4:c.1638C>T, XM_005258784.3:c.1638C>T, XM_005258784.2:c.1638C>T, XM_005258784.1:c.1638C>T, XM_005258786.4:c.1638C>T, XM_005258786.3:c.1638C>T, XM_005258786.2:c.1638C>T, XM_005258786.1:c.1638C>T, XM_005258785.4:c.1638C>T, XM_005258785.3:c.1638C>T, XM_005258785.2:c.1638C>T, XM_005258785.1:c.1638C>T, XM_017026636.3:c.1395C>T, XM_017026636.2:c.1395C>T, XM_017026636.1:c.1395C>T, XM_017026633.2:c.1638C>T, XM_017026633.1:c.1638C>T, NM_181845.2:c.1713C>T, NM_181845.1:c.1713C>T, XM_017026634.2:c.1638C>T, XM_017026634.1:c.1638C>T, XM_017026635.2:c.1512C>T, XM_017026635.1:c.1512C>T, NM_001297752.2:c.1296C>T, NM_001297752.1:c.1296C>T, XM_024451460.2:c.1638C>T, XM_024451460.1:c.1638C>T, XM_047438638.1:c.1638C>T, XM_047438639.1:c.1638C>T

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